Varaico: Literature-Extracted Genetic Variants

TCIRG1

279 papers

RefSeq Summary

This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps ...

Pfam Domains

V_ATPase_Iaa 27–825UCSCV-type ATPase 116kDa subunit family

Gene Aliases

HGNC Name

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

HGNC Alias Symbols

TIRC7; OC-116; OC116; ATP6N1C; Atp6i; a3; ATP6V0A3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006019.4

p.M1T

c.2T>C

Surrounding Variants

2 papers

NM_006019.4

p.M1R

c.2T>G

3 papers

NM_006019.4

p.G2insFs

c.5dupG

1 paper

NM_006019.4

p.M1I

c.3G>A

1 paper

NM_006019.4

p.M1Fs

c.1_2delinsTFs

1 paper

NM_006019.4

p.G2S

c.4G>A

1 paper

NM_006019.4

p.G2insFs

c.5_6ins4

1 paper

NM_006019.4

p.G2G

c.6C>G

1 paper

NM_006019.4

p.S3T

c.7T>A

1 paper

NM_006019.4

p.S3C

c.8C>G

1 paper

NM_006019.4

p.A11_V13delFs

c.33_37del5

1 paper

NM_006019.4

p.Q14Q

c.42G>A

1 paper

NM_006019.4

p.F16Y

c.47T>A